Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing - Theuriet, Julian; Fernandez-Eulate, Gorka; Latour, Philippe; Stojkovic, Tanya; Masingue, Marion; Vidoni, Léo; Bernard, Emilien; Jacquier, Arnaud; Schaeffer, Laurent; Salort-Campana, Emmanuelle; Chanson, Jean-Baptiste; Pakleza, Aleksandra Nadaj; et al. (European journal of human genetics : EJHG, 2024)
Keywords: Atrophy; Chromosome 5; Chromosome deletion; Electromyography; Gene deletion; Genes; Genetic screening; Genetics; Genomes; Genomics; Kinases; Life Sciences; Mutation; Next-generation sequencing; Patients; Proteins; SMN protein; Spinal muscular atrophy; Whole genome sequencing